and perisylvian polymicrogyria. The duplicated segment is intrachromosomal, . et al. 0 duplicated in mirror and contains two genes: enolase 1 (ENO1) and RERE - issue: - volume: - pages: .
M, . et al. 0 V i l l a r d L . " E u r J M e d G e n e t . 2 0 0 9 J u l - A u g ; 5 2 ( 4 ) : 2 1 1 - 7 . d o i : 1 0 . 1 0 1 6 / j . e j m g . 2 0 0 9 . 0 4 . 0 0 2 . E p u b 2 0 0 9 A p r 1 8 . " H a d d a d M R E u r J M e d G e n e t 2 0 0 9 2 2 / 0 4 / 2 0 0 9 1 0 . 1 0 1 6 / j . e j m g . 2 0 0 9 . 0 4 . 0 0 2 - issue: - volume: - pages: .
M., . et al. 0 R.; Gardiner which is unusually high in GC content and contain - issue: - volume: - pages: .
m i c r o c e p h a l y, . et al. 0 a n d i n t e l l e c t u a l d i s a b i l i t y ? R a v e l A M - issue: - volume: - pages: .
Aude, . et al. 0 Rolph; Busa Thierry; Gatinois Vincent; Nadeau - issue: Bruno; Marlin - volume: Sandrine; Verloes - pages: Aurélia; Khau Van Kien.
neuroanatomical studies at different time points, . et al. 0 and multiple behavioral tests. RESULTS: The Kcnq2(Thr274Met/+) mice are viable and display generalized spontaneous seizures first observed between postnatal day 20 (P20) and P30. In vivo EEG recordings show that the paroxysmal events observed macroscopically are epileptic seizures. The brain of the Kcnq2(Thr274Met/+) animals does not display major structural defects - issue: - volume: - pages: .
B., . et al. 0 A.; Ayrault N.; Moraine - issue: - volume: - pages: identifying a 17 cM interval. This result suggests a new gene localization in the prox.
and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, . et al. 0 19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients - issue: - volume: - pages: .
, . et al. 0 Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling - issue: - volume: - pages: .
increases striatal BDNF availability and synaptic connectivity in vivo, . et al. 0 and improves the phenotype and the survival of Mecp2 knockout mice-even though treatments were initiated only after the mice had already developed symptoms. Stimulation of endogenous cellular pathways may thus be a promising approach for the treatment of RTT patients.;07/02/2020;04/08/2025 08:04;04/08/2025 08:04;;e10889;;2;12;;EMBO Mol Med;;;;;;;;eng;© 2020 The Authors. Published under the terms of the CC BY 4.0 license.;;;;;;Place: Germany PMID: 31913581 PMCID: PMC7005633 - issue: - volume: - pages: .
M.", . et al. 0 associated with an ATR-X phenotype without alpha-thalassemia;European journal of human genetics: EJHG;;1018-4813;;;"We have previously reported the isolation of a gene from Xq13 segregating in a family presenting an ""ATR-X' phenotype without alpha-thalassemia - issue: - volume: - pages: .